- Canine as a Comparative and Translational Model for Human Mammary Tumor
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Kwon JY, Moskwa N, Kang W, Fan TM, Lee C
- KMID: 2540042
- J Breast Cancer.
- 2023 Feb;26(1):1-13.
- doi: 10.4048/jbc.2023.26.e4
Despite the advances in research and treatment of human breast cancer, its incidence rate continues to increase by 0.5% per year, and the discovery of novel therapeutic strategies for specific... -
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- Diagnosis and Treatment of Monogenic Hypertension in Children
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Park SJ, Shin JI
- KMID: 2538956
- Yonsei Med J.
- 2023 Feb;64(2):77-85.
- doi: 10.3349/ymj.2022.0316
Although the majority of individuals with hypertension (HTN) have primary and polygenic HTN, monogenic HTN is a secondary type that is widely thought to play a key role in pediatric... -
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- Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
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Yamamoto Y, Liao YC, Lee YC, Ihara M, Choi JC
- KMID: 2537180
- J Clin Neurol.
- 2023 Jan;19(1):12-27.
- doi: 10.3988/jcn.2023.19.1.12
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disorder of the cerebral small blood vessels. It is caused by mutations in the NOTCH3... -
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- Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation
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Kim JW, Kang HE, Choi J, Yun SG, Jung SP, Bae SY, You JY, Choi YJ, Kim YH, Park KH
- KMID: 2538001
- Cancer Res Treat.
- 2023 Jan;55(1):155-166.
- doi: 10.4143/crt.2021.1567
Purpose BRCA1 and BRCA2 are among the most important genes involved in DNA repair via homologous recombination (HR). Germline BRCA1/2 (gBRCA1/2)-related cancers have specific characteristics and treatment options but conducting gBRCA1/2... -
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- Spinal Metastases and the Evolving Role of Molecular Targeted Therapy, Chemotherapy, and Immunotherapy
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Fomchenko EI, Bayley JC, Alvarez-Breckenridge C, Rhines LD, Tatsui CE
- KMID: 2537362
- Neurospine.
- 2022 Dec;19(4):978-993.
- doi: 10.14245/ns.2244290.145
Metastatic involvement of the spine is a common complication of systemic cancer progression. Surgery and external beam radiotherapy are palliative treatment modalities aiming to preserve neurological function, control pain and... -
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- Management of propofol-related infusion syndrome and discussion of POLG mitochondrial mutation: a case report
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Nguyen B, Figueroa S
- KMID: 2538769
- J Neurocrit Care.
- 2022 Dec;15(2):122-125.
- doi: 10.18700/jnc.220071
Background: Propofol-related infusion syndrome (PRIS) is a known complication of long-term propofol infusion. Providers should be aware of PRIS risk, as early recognition is key to avoiding mortality, which can... -
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- SCN5A p.P1725L variant that showed ventricular fibrillation and recurrent pericarditis, and a family member with sick sinus syndrome
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Yamamoto H, Itamoto C, Hayashi M, Kohno T, Yagihara N
- KMID: 2537665
- Int J Arrhythm.
- 2022 Dec;23(4):27.
- doi: 10.1186/s42444-022-00077-9
Background: In Brugada syndrome (BrS), the arrhythmogenic substrate is suggested to be located in the epicardial surface of the right ventricle outflow tract. Postmortem examinations of BrS described epicardial and... -
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- A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn
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Hong G, Choi M
- KMID: 2536658
- Neonatal Med.
- 2022 Nov;29(4):130-134.
- doi: 10.5385/nm.2022.29.4.130
Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and... -
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- Cerebral Venous Sinus Thrombosis with MTHFR C677T Heterozygous Mutation
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Chae S, Yun DM, Lim SM, Jang SH
- KMID: 2535869
- J Korean Neurol Assoc.
- 2022 Oct;40(4):307-310.
- doi: 10.17340/jkna.2022.4.3
Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases the level of homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause of elevated homocysteine level associated with... -
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- Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis
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Alam MM, Alathaibi A, Attar RA, Kashif M, Al-Ghamdi HS, Alharthi SA, Bokhary A, Althomali M
- KMID: 2534765
- Clin Pediatr Hematol Oncol.
- 2022 Oct;29(2):65-69.
- doi: 10.15264/cpho.2022.29.2.65
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia,... -
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- Somatic Mutations of TP53 Identified by Targeted Next-Generation Sequencing Are Poor Prognostic Factors for Primary Operable Breast Cancer: A Single-Center Study
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Park JH, Kwon MJ, Seo J, Kim HY, Min SK, Kim LS
- KMID: 2534775
- J Breast Cancer.
- 2022 Oct;25(5):379-386.
- doi: 10.4048/jbc.2022.25.e41
Few studies have reported on the clinical utility of targeted next-generation sequencing (NGS) for breast cancer in Korea. We retrospectively reviewed the targeted NGS data of 219 patients with breast... -
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- A Novel Missense PRKAR1A Variant Causes Carney Complex
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Kim B, Jang HN, Chae KS, Shin HS, Kim YH, Kim SJ, Seong MW, Kim JH
- KMID: 2534633
- Endocrinol Metab.
- 2022 Oct;37(5):810-815.
- doi: 10.3803/EnM.2022.1544
The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of... -
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- Diagnostic Approach for Acute Myeloid Leukemia Based on the World Health Organization Classification of Hematologic Neoplasms
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Cho YU
- KMID: 2534385
- Korean J Med.
- 2022 Oct;97(5):308-318.
- doi: 10.3904/kjm.2022.97.5.308
Acute myeloid leukemias (AMLs) are heterogeneous hematologic neoplasms characterized by myeloblast or promyelocyte proliferation without normal differentiation. The World Health Organization (WHO) classifies AMLs on the basis of chromosomal and... -
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- Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran
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Komachali SR, Siahpoosh Z, Salehi M
- KMID: 2535365
- Genomics Inform.
- 2022 Sep;20(3):e30.
- doi: 10.5808/gi.22030
Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by... -
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- Elderly CADASIL patients with intact neurological status
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Zhang R, Ouin E, Grosset L, Ighilkrim K, Lebenberg J, Guey S, François V, Tournier-Lasserve E, Jouvent E, Chabriat H
- KMID: 2534264
- J Stroke.
- 2022 Sep;24(3):352-362.
- doi: 10.5853/jos.2022.01578
Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most devastating cerebral small vessel diseases. However, despite its progression with aging, some... -
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- Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation
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Kim EY, Kim SY, Seo Y, Shin C
- KMID: 2533692
- J Mov Disord.
- 2022 Sep;15(3):269-272.
- doi: 10.14802/jmd.22006
Mutations in the F-box only protein 7 (FBXO7) gene are the cause of autosomal recessive parkinsonian-pyramidal syndrome. Herein, we report a patient with a novel FBXO7 mutation with a unique... -
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- Bismuth-Based Quadruple Therapy versus MetronidazoleIntensified Triple Therapy as a First-Line Treatment for Clarithromycin-Resistant Helicobacter pylori Infection: A Multicenter Randomized Controlled Trial
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Seo SI, Lim H, Bang CS, Yang YJ, Baik GH, Lee SP, Jang HJ, Kae SH, Kim J, Kim HY, Shin WG
- KMID: 2533178
- Gut Liver.
- 2022 Sep;16(5):697-705.
- doi: 10.5009/gnl210365
Background/Aims: Clarithromycin resistance is a main factor for treatment failure in the context of Helicobacter pylori infection. However, the treatment regimen for clarithromycin-resistant H. pylori infection has not yet been determined.... -
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- Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients
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Yang H, Park H, Ryu HJ, Heo J, Kim JS, Oh YL, Choe JH, Kim JH, Kim JS, Jang HW, Kim TH, Kim SW, Chung JH
- KMID: 2532865
- Endocrinol Metab.
- 2022 Aug;37(4):652-663.
- doi: 10.3803/EnM.2022.1477
Background: Telomerase reverse transcriptase (TERT) promoter mutations are associated with increased recurrence and mortality in patients with thyroid carcinoma. Previous studies on TERT promoter mutations were retrospectively conducted on a... -
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- Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants
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Kwon SG, Bae GH, Choi JH, Mali NM, Jun MS, Kim DS, Han MH, Park S, Ju YS, Choi SH, Oh JW
- KMID: 2533917
- Tissue Eng Regen Med.
- 2022 Aug;19(4):809-821.
- doi: 10.1007/s13770-022-00443-7
BACKGROUND: In humans, after fertilization, the zygote divides into two 2n diploid daughter blastomeres. During this division, DNA is replicated, and the remaining mutually exclusive genetic mutations in the genome... -
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- Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
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Umugire A, Lee S, Lee CJ, Choi Y, Kim T, Cho HH
- KMID: 2532986
- Clin Exp Otorhinolaryngol.
- 2022 Aug;15(3):220-229.
- doi: 10.21053/ceo.2022.00038
Objectives. Hyaluronan synthase 1 (HAS1) is a membrane-bound protein that is abundant in the epidermis and dermis, and it is important for skin function. However, its association with hearing loss... -
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